Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos

Abstract

We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the clinical aspects of the atypical form presented by our patient, the efficacy of the more available drugs employed for the treatment of myotonia congenita is briefly discussed .

Keywords

• miotonia congênita
• miotonia congênita de Becker
• miotonia congênita de Thomsen
• miotonia fluctuans
• tratamento da miotonia